regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRD_chr3_184375054_184394829 | 184385666 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 NA20129.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0034 | 3 | 428 | 0.0070 | -13 | c.181 others(30): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHRFAM7A_chr15_30355566_30398540 | 30376126 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0062 | 1 | 133 | 0.0075 | -13 | c.160 others(28): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30391685 | TACAACTC others(6): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 133 | 0.0075 | -13 | c.-15 others(32): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30397867 | CGATAGTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01256.hp2 others(7): Show |
a0002 | a0002c0002a0002c0011a0002c0015others(2): Show | a0002c0002t0007a0002c0011t0006a0002c0015t0007others(2): Show | a0002c0002t0007g0019a0002c0002t0007g0023a0002c0002t0007g0024others(6): Show | 10 | 133 | 0.0752 | -13 | c.-47 others(24): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 4328 | chr15 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136930898 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 HG02055.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0023a0001c0001t0001g0254a0001c0001t0005g0127others(22): Show | 25 | 320 | 0.0781 | -13 | c.-12 others(34): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136938915 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0034others(33): Show | 36 | 320 | 0.1125 | -13 | c.-12 others(34): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239488714 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0060 | a0001c0001t0021g0019a0001c0001t0060g0001 | 2 | 116 | 0.0172 | -13 | c.-52 others(32): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239832454 | TTGACCAT others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(3): Show | a0001c0001t0001g0056a0001c0001t0007g0055a0001c0001t0016g0114others(3): Show | 6 | 116 | 0.0517 | -13 | c.-20 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 33982982 | GACTGCAC others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(158): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0073a0001c0001t0001g0074others(157): Show | 161 | 338 | 0.4763 | -13 | c.-40 others(34): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 34008483 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0005a0006 | a0001c0001a0001c0006a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0077a0001c0001t0001g0078others(134): Show | 140 | 338 | 0.4142 | -13 | c.-40 others(34): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA10_chr11_3660587_3676384 | 3663020 | CTCATCTC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 450 | 0.0044 | -13 | c.*30 others(24): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2566 | chr11 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63351180 | TCCATGTC others(6): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02630.hp1 HG02647.hp2 others(3): Show |
a0000a0001 | a0000c0006a0001c0001a0001c0007others(1): Show | a0000c0006t0028a0001c0001t0006a0001c0001t0034others(3): Show | a0000c0006t0028g0079a0001c0001t0006g0051a0001c0001t0034g0131others(3): Show | 6 | 168 | 0.0357 | -13 | c.384 others(28): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78563331 | GAAAAAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0261a0001c0001t0007g0009 | 2 | 382 | 0.0052 | -13 | c.-23 others(24): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2188 | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32164912 | CTAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0206a0001c0001t0029g0213 | 2 | 307 | 0.0065 | -13 | c.990 others(30): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40332372 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 |
a0001a0007 | a0001c0002a0007c0012 | a0001c0002t0001a0007c0012t0005 | a0001c0002t0001g0176a0007c0012t0005g0186 | 2 | 420 | 0.0048 | -13 | c.-30 others(24): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 2960 | chr4 | TogoVar | ||||||
CHRNB1_chr17_7440061_7462710 | 7450039 | AAAAATAA others(6): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 368 | 0.0027 | -13 | c.820 others(30): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHRNB1_chr17_7440061_7462710 | 7454794 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 368 | 0.0027 | -13 | c.104 others(30): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42720111 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0052a0002c0002t0004g0119a0002c0002t0004g0120others(5): Show | 8 | 282 | 0.0284 | -13 | c.249 others(30): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104637302 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 240 | 0.0042 | -13 | c.204 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2408362 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(163): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(148): Show | a0001c0001t0004g0002a0001c0001t0004g0006a0001c0001t0005g0002others(159): Show | 166 | 344 | 0.4826 | -13 | c.-78 others(30): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0194 | 1 | 344 | 0.0029 | -13 | c.-77 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | TAAAAAAA others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01891.hp2 others(5): Show |
a0001a0008 | a0001c0001a0001c0012a0008c0014 | a0001c0001t0028a0001c0001t0029a0001c0001t0140others(5): Show | a0001c0001t0028g0125a0001c0001t0029g0005a0001c0001t0140g0120others(5): Show | 8 | 344 | 0.0233 | -13 | c.*72 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 720 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST13_chr3_126519155_126548291 | 126536895 | AAACACAC others(6): Show |
A | intron_variant | MODIFIER | NA19063.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0105 | 1 | 364 | 0.0028 | -13 | c.180 others(28): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124045112 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0177a0001c0001t0001g0178others(4): Show | 8 | 392 | 0.0204 | -13 | c.547 others(28): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST1_chr11_45642689_45670622 | 45670154 | AGTGGTCT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 386 | 0.0026 | -13 | c.-52 others(24): Show |
CHST1 | ENSG00000175264.8 | transcript | ENST00000308064.7 | protein_coding | 4533 | chr11 | TogoVar | ||||||
CHST2_chr3_143114771_143129014 | 143117247 | AGGAGAAG others(6): Show |
A | upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0001 | 1 | 464 | 0.0022 | -13 | c.-34 others(24): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 2523 | chr3 | TogoVar | ||||||
CHST2_chr3_143114771_143129014 | 143120202 | CCGCCCCC others(6): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0001 | 1 | 464 | 0.0022 | -13 | c.-50 others(22): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 1/2 | 591 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CHST4_chr16_71521426_71543748 | 71529543 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 418 | 0.0024 | -13 | c.-19 others(30): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHST4_chr16_71521426_71543748 | 71533429 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0056 | 7 | 418 | 0.0168 | -13 | c.-18 others(30): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75476560 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0081 | 1 | 371 | 0.0027 | -13 | c.*20 others(24): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 3/3 | 2068 | chr16 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75491165 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0323 | 1 | 371 | 0.0027 | -13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33650505 | TTCTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0080others(15): Show | 18 | 254 | 0.0709 | -13 | c.-16 others(34): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757511 | AAAGAAAG others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 254 | 0.0039 | -13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 26987334 | AGCCAGTG others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 262 | 0.0038 | -13 | c.202 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0054others(55): Show | 58 | 262 | 0.2214 | -13 | c.202 others(30): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101186802 | ACAAAAAC others(6): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02165.hp1 others(7): Show |
a0001 | a0001c0008 | a0001c0008t0010a0001c0008t0039a0001c0008t0040others(1): Show | a0001c0008t0010g0034a0001c0008t0010g0035a0001c0008t0010g0037others(7): Show | 10 | 422 | 0.0237 | -13 | c.817 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101217279 | ACTATCAA others(6): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02165.hp1 others(7): Show |
a0001 | a0001c0008 | a0001c0008t0010a0001c0008t0039a0001c0008t0040others(1): Show | a0001c0008t0010g0034a0001c0008t0010g0035a0001c0008t0010g0037others(7): Show | 10 | 422 | 0.0237 | -13 | c.816 others(32): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101252321 | GCGCACGT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(40): Show | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0008g0220others(117): Show | 123 | 422 | 0.2915 | -13 | c.-87 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 274 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129979199 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 NA19043.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0004 | a0001c0001t0013a0002c0007t0009a0003c0004t0003 | a0001c0001t0013g0240a0001c0001t0013g0241a0001c0001t0013g0242others(2): Show | 5 | 276 | 0.0181 | -13 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020444 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG01361.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045a0001c0002t0001g0071a0001c0002t0001g0075others(2): Show | 5 | 276 | 0.0181 | -13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020446 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01928.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0001c0015others(3): Show | a0001c0002t0001a0001c0002t0014a0001c0008t0001others(4): Show | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0031others(28): Show | 31 | 276 | 0.1123 | -13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020448 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03491.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0003 | a0001c0001t0002g0145a0003c0006t0003g0059 | 2 | 276 | 0.0073 | -13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020455 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0206 | 1 | 276 | 0.0036 | -13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHUK_chr10_100183300_100234596 | 100197868 | AACCAAAA others(6): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 402 | 0.0025 | -13 | c.172 others(32): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 16/20 | chr10 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57445834 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 390 | 0.0026 | -13 | c.-56 others(30): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 390 | 0.0026 | -13 | c.87- others(28): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78128367 | GGGAAAGG others(6): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 390 | 0.0026 | -13 | c.51+ others(28): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26588967 | GCCGCTTC others(6): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG04199.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0311a0002c0002t0002g0277a0002c0002t0002g0284 | 3 | 344 | 0.0087 | -13 | c.329 others(30): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26595916 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 344 | 0.0029 | -13 | c.187 others(28): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601224 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0275 | 1 | 344 | 0.0029 | -13 | c.187 others(30): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar |